Research output per year
Research output per year
Fingerprint
Dive into the research topics where Kenjiro Kosaki is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
-
A case of early infantile epileptic encephalopathy type 7 with partial response to pyridoxal Phosphate
Hagita, M., Miyata, Y., Nakagawa, E., Takeda, R., Yoshihashi, H., Honda, M., Takeuchi, T., Kosaki, K., Oka, A. & Yan, K., 2021, In: NO TO HATTATSU. 53, 2, p. 137-141 5 p.Research output: Contribution to journal › Article › peer-review
-
A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty
Saito, M., Hirano, D., Kobayashi, H., Kosaki, K. & Miyata, I., 2021 Mar, In: Pediatrics International. 63, 3, p. 338-339 2 p.Research output: Contribution to journal › Article › peer-review
-
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Biesecker, L. G., Adam, M. P., Alkuraya, F. S., Amemiya, A. R., Bamshad, M. J., Beck, A. E., Bennett, J. T., Bird, L. M., Carey, J. C., Chung, B., Clark, R. D., Cox, T. C., Curry, C., Dinulos, M. B. P., Dobyns, W. B., Giampietro, P. F., Girisha, K. M., Glass, I. A., Graham, J. M., Gripp, K. W. & 27 others, , 2021 Jan 7, In: American Journal of Human Genetics. 108, 1, p. 8-15 8 p.Research output: Contribution to journal › Review article › peer-review
13 Citations (Scopus) -
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30
Ueda, K., Araki, A., Fujita, A., Matsumoto, N., Uehara, T., Suzuki, H., Takenouchi, T., Kosaki, K. & Okamoto, N., 2021 Dec, In: Human Genome Variation. 8, 1, 24.Research output: Contribution to journal › Article › peer-review
Open Access -
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants
Takahashi, Y., Kubota, M., Kosaki, R., Kosaki, K. & Ishiguro, A., 2021 Mar, In: Brain and Development. 43, 3, p. 464-469 6 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)